PMC Links for Protein (Select 1012282658) - PMC

Select item 49706771.

A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene

Katta Mohan Girisha, Fanny Kortüm, Hitesh Shah, Malik Alawi, Ashwin Dalal, Gandham SriLakshmi Bhavani, Kerstin Kutsche

Eur J Hum Genet. 2016 Aug; 24(8): 1206–1210. Published online 2015 Dec 16. doi: 10.1038/ejhg.2015.261

PMCID:: PMC4970677

Select item 48691702.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group

Nat Commun. 2016; 7: 11491. Published online 2016 May 13. doi: 10.1038/ncomms11491

PMCID:: PMC4869170

Abstract Article PDF–2.0M

Select item 37783563.

Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation

Anne Frühmesser, Jonathon Blake, Edda Haberlandt, Bianka Baying, Benjamin Raeder, Heiko Runz, Ana Spreiz, Christine Fauth, Vladimir Benes, Gerd Utermann, Johannes Zschocke, Dieter Kotzot

Eur J Hum Genet. 2013 Oct; 21(10): 1177–1180. Published online 2013 Feb 20. doi: 10.1038/ejhg.2013.18

PMCID:: PMC3778356

Abstract Article PDF–818K

Select item 37280104.

Functional characterisation of human cells harbouring a novel t(2p;7p) translocation involving TNS3 and EXOC6B genes

Desiree Ludwig, Jessica Carter, James R Smith, Giuseppe Borsani, Sergio Barlati, Sassan Hafizi

BMC Med Genet. 2013; 14: 65. Published online 2013 Jun 28. doi: 10.1186/1471-2350-14-65

PMCID:: PMC3728010

Abstract Article PDF–1008K

Select item 37102735.

Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2

Jiadi Wen, Fátima Lopes, Gabriela Soares, Sandra A Farrell, Cara Nelson, Ying Qiao, Sally Martell, Chansonette Badukke, Carlos Bessa, Bauke Ylstra, Suzanne Lewis, Nina Isoherranen, Patricia Maciel, Evica Rajcan-Separovic

Orphanet J Rare Dis. 2013; 8: 100. Published online 2013 Jul 10. doi: 10.1186/1750-1172-8-100

PMCID:: PMC3710273

Abstract Article PDF–1.7M

Select item 33460936.

A Rab8 Guanine Nucleotide Exchange Factor-Effector Interaction Network Regulates Primary Ciliogenesis

Shanshan Feng, Andreas Knödler, Jinqi Ren, Jian Zhang, Xiaoyu Zhang, Yujuan Hong, Shaohui Huang, Johan Peränen, Wei Guo

J Biol Chem. 2012 May 4; 287(19): 15602–15609. Published online 2012 Mar 19. doi: 10.1074/jbc.M111.333245

PMCID:: PMC3346093

Abstract Article PDF–2.2M

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